Canonical Allele Identifier: PA658800885
Gene: FBN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 519696
ClinVar RCV Id: RCV000663877 RCV000812728 RCV002314300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000129.3:p.Ile2185Thr
CA269524605
NM_000138.5:c.6554T>C